Variant report

Variant	rs12671456
Chromosome Location	chr7:101671793-101671794
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr7:101671728-101671980	GM12891	blood:	n/a	n/a
2	GABPA	chr7:101671558-101672254	HL-60	blood:	n/a	n/a
3	MAX	chr7:101671668-101672162	NB4	blood:	n/a	chr7:101671972-101671981 chr7:101671972-101671982 chr7:101671973-101671980
4	POLR2A	chr7:101671778-101671867	K562	blood:	n/a	n/a
5	POLR2A	chr7:101671736-101671902	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr7:101671644-101672006	GM12878	blood:	n/a	n/a
7	EBF1	chr7:101671709-101672022	GM12878	blood:	n/a	n/a
8	USF1	chr7:101671756-101672068	GM12878	blood:	n/a	n/a
9	FOXM1	chr7:101671761-101672138	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:101671357-101672217	HL-60	blood:	n/a	n/a
11	SPI1	chr7:101671791-101672049	GM12891	blood:	n/a	n/a
12	RUNX3	chr7:101671669-101672111	GM12878	blood:	n/a	n/a
13	SPI1	chr7:101671429-101672273	HL-60	blood:	n/a	n/a
14	SPI1	chr7:101671650-101672149	HL-60	blood:	n/a	n/a
15	RUNX3	chr7:101671718-101672131	GM12878	blood:	n/a	n/a
16	MYC	chr7:101671656-101672098	NB4	blood:	n/a	chr7:101671972-101671981 chr7:101671972-101671982 chr7:101671973-101671980
17	POLR2A	chr7:101671407-101672284	HL-60	blood:	n/a	n/a
18	ELF1	chr7:101671458-101672099	GM12878	blood:	n/a	n/a
19	REST	chr7:101671431-101672223	HL-60	blood:	n/a	chr7:101671513-101671521

Variant related genes	Relation type
ENSG00000272544	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1060697	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12234278	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12668172	0.80[JPT][hapmap]
rs13243569	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202141	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs34271773	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59092941	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66894617	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9649239	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482846	chr7:101539981-101707666	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv482521	chr7:101604002-101718950	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831080	chr7:101629121-101718950	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1027574	chr7:101654060-101718950	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101641600-101672000	Weak transcription	K562	blood
2	chr7:101642200-101674600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:101642400-101675400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:101642800-101697600	Weak transcription	Primary B cells from cord blood	blood
5	chr7:101643000-101672800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:101643000-101675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:101648200-101681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:101648200-101688000	Weak transcription	Ovary	ovary
9	chr7:101649400-101672800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:101652400-101683200	Weak transcription	Right Ventricle	heart
11	chr7:101652800-101688400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:101653000-101688200	Weak transcription	Colonic Mucosa	Colon
13	chr7:101653200-101685200	Weak transcription	HSMMtube	muscle
14	chr7:101656000-101682800	Weak transcription	Psoas Muscle	Psoas
15	chr7:101656000-101689200	Weak transcription	Aorta	Aorta
16	chr7:101656800-101681400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:101657000-101672000	Weak transcription	Fetal Lung	lung
18	chr7:101657000-101681400	Weak transcription	Osteobl	bone
19	chr7:101657200-101677000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:101662400-101671800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:101664600-101676400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr7:101665600-101688000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:101666600-101681400	Weak transcription	NHLF	lung
24	chr7:101667200-101688200	Weak transcription	Brain Substantia Nigra	brain
25	chr7:101667600-101672600	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:101667600-101675200	Weak transcription	Esophagus	oesophagus
27	chr7:101667600-101676800	Weak transcription	Brain Germinal Matrix	brain
28	chr7:101667600-101685200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:101667600-101685200	Weak transcription	NH-A	brain
30	chr7:101667600-101688000	Weak transcription	Brain Anterior Caudate	brain
31	chr7:101667600-101688000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:101667600-101688200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:101667600-101688400	Weak transcription	Fetal Brain Female	brain
34	chr7:101668000-101707200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr7:101668200-101672000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr7:101668200-101672600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:101668200-101682600	Weak transcription	Left Ventricle	heart
38	chr7:101668200-101683200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:101668200-101688000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr7:101668400-101672600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:101668400-101672800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:101668600-101676800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:101668600-101694200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:101668800-101682600	Weak transcription	Right Atrium	heart
45	chr7:101669600-101674200	Enhancers	Thymus	Thymus
46	chr7:101670200-101672400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:101670400-101671800	Enhancers	Primary hematopoietic stem cells	blood
48	chr7:101670400-101676600	Strong transcription	Fetal Intestine Small	intestine
49	chr7:101670400-101681400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:101670800-101671800	Flanking Active TSS	Dnd41	blood

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